Dr Chandril Chugh
MBBS ( Delhi), MD, DM(ABPN), Neurosurgenology, FAHA, FACP, FINR, FNCC
Consult the Top Neurologist in Patna for Children's Genetic Brain Disorders
Genetic disorder
A genetic disease is a condition caused by a complete or partial deviation from a specific DNA sequence. A single gene mutation (monogenic disorder), multiple gene mutations (multifactorial inheritance disorder), a combination of environmental factors and gene mutations, or damage to chromosomes can all result in genetic disorders.
As we discover more about the human genome (the entire collection of human genes), nearly all diseases have a genetic component. Some diseases, including sickle cell anaemia, are brought on by genetic abnormalities that take place at birth. Gene- or gene-set-acquired mutations that occur over the course of a person’s lifetime are the cause of other diseases. Instead of being inherited from parents, these mutations arise at random or as a result of exposure to an environmental element (such as cigarette smoke). It includes multiple malignancies and several forms of neurofibromatosis.
Common genetic disorders
- Cystic fibrosis
- Down syndrome
- Fragile X syndrome
- Sickle cell anemia
- Marfan syndrome
- Huntington’s disease
- Tay–Sachs disease
- Thalassemia
- Prader–Willi syndrome
- Haemochromatosis
Causes of genetic disorders
Understanding how your genes and DNA function will help you better understand the causes of genetic disorders. Your genes contain a large portion of DNA that tells the body how to build proteins. These proteins initiate intricate cell interactions that support your wellbeing.
A mutation alters the instructions that the genes use to make proteins. There might be protein deficiencies. Or the ones you currently possess don’t work properly. Environmental factors, commonly called mutagens, that can cause genetic mutations include:
- Exposure to chemicals.
- Exposure to radiation.
- Smoking.
- UV radiation from the sun
Genetic Disease Symptoms and Signs
If there is a history of genetic problems in your family, specialists advise genetic counselling and testing. To eliminate any future uncertainties, you might have a risk assessment done.
Antenatal testing
Prenatal genetic testing comes in two flavours: screening and diagnostic. Screening tests establish the likelihood that your child will have genetic abnormalities. Foetal cell diagnostic testing determines whether or not such a condition is present. Non-invasive prenatal testing (NIPT) is one illustration.
Predictive Analysis
This test is for people who do not have a history of genetic disorders in their families but nevertheless want to rule them out.
Determine your carrier status
Doctors examine DNA taken from cheek cells or blood. Whether you or your partner have genes connected to a disorder is confirmed by this test.
Pre-Injection Evaluation
It is only available to those choosing in-vitro fertilisation. Prior to implantation into the uterus, it evaluates an embryo for any potential genetic abnormalities.
NBS: Newborn Screening
It entails examining a newborn for any potential chromosomal anomalies. If the illness is diagnosed early, it can be managed.
Treatment
Most genetic diseases are incurable. Some diseases offer treatments that could halt their progression or minimise their negative effects on your life. Depending on the nature and severity of the ailment, you may need a certain sort of treatment. Others may not be treatable, but we can offer medical supervision to try to spot issues early.
You could require
- Chemotherapy to stop uncontrolled cell growth or medications to treat symptoms
- Get the nutrients your body requires with the help of nutritional counselling or dietary supplements.
- To the best of your abilities, seek out physical, occupational, or speech therapy.
- A blood transfusion to replenish healthy blood cell numbers.
- To cure issues or perform surgery to fix faulty structures.
- Specialised medical procedures, such as radiation therapy for cancer.
- Transplanting an organ involves replacing a non-working organ with one from a healthy donor.
Types of Genetic Disorders
Disorder of Monogenic Inheritance
Monogenic disorders are genetic conditions caused by changes in a single gene's DNA sequence. One or two copies of the faulty gene could be inherited from the person's parents.
Sickle-cell anaemia, cystic fibrosis, Huntington's disease, thalassemia, and Marfan syndrome are examples of this category.
Disorder with multiple factor inheritance
Multifactorial genetic diseases are genetic abnormalities caused by gene mutations in many genes. These mutations may also be brought on by environmental factors.
Diabetes, arthritis, hypertension, cardiovascular abnormalities, and Alzheimer's disease are a few examples of this category.
Why might a person seek genetic advice?
- A genetic consultation may be helpful for people or families who are concerned about an inherited condition. A person may be sent to a genetic counsellor, medical geneticist, or another genetics specialist for the following reasons:
- History of personal or family history of genetic cancers, abnormalities, birth defects, or genetic diseases.
- A youngster with a recognised hereditary condition, birth defect, intellectual handicap, or developmental delay.
- Abnormal test outcomes that point to a chromosomal or genetic disorder.
- People who are related by blood tend to start a family together, just like their cousins. (A child whose parents are linked could be more likely to inherit specific genetic diseases.)
- The decision to undergo genetic testing should be made after consulting a genetic expert. Even if testing is not available for a particular issue, a consultation with a genetics expert may be beneficial
When should I see a doctor for a genetic disorder?
It is imperative to seek medical attention from a qualified healthcare professional in the event of a suspected genetic disorder. The manifestation of genetic disorders can vary widely, ranging from mild to severe symptoms, and may present at any stage of life. Early diagnosis and intervention can significantly improve the prognosis and quality of life for individuals affected by genetic disorders. Prompt medical attention can help mitigate the potential complications associated with genetic disorders.